MTHFR Gene Mutation – Its Significance and Impact on Health
Alicja Kowalska
2026-03-25
8 min. read
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Homocysteine, an amino acid whose high levels in our body are typically associated with heart diseases and circulatory system disorders, is regulated by various factors, including the supply of folic acid and vitamin B12, which can be controlled through quitting smoking or regular physical activity. However, some individuals, despite their efforts and maintaining a healthy lifestyle, may have difficulties in maintaining an appropriate homocysteine level, which may be due to a mutation in the MTHFR gene that plays a crucial role in folic acid metabolism and methionine synthesis.
The C677T polymorphism in the MTHFR gene: enzymatic dysfunction and population-level variability
Scientific literature has documented eleven distinct mutational variants within the *MTHFR* gene, which encodes the enzyme methylene tetrahydrofolate reductase. Among these, the single-nucleotide polymorphism designated as C677T represents the most prevalent and extensively studied alteration. This mutation induces a reduction in the catalytic efficiency of the enzyme, thereby impairing the conversion of 5,10-methylene tetrahydrofolate into its biologically active derivative, 5-methyl tetrahydrofolate. The metabolic disruption resulting from this enzymatic deficiency manifests as an accumulation of homocysteine in blood plasma, a condition that may be associated with a spectrum of health-related consequences. The prevalence of this polymorphism in the general population ranges from 2% to 20%, though in European ethnic groups, the carrier frequency can reach as high as 40%. It is crucial to note, however, that the mere presence of this genetic variation does not invariably correlate with adverse clinical outcomes or deteriorated health status, as corroborated by the 2015 study conducted by Liew and Gupta.
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